New asthma gene discovered in African Americans

A novel gene is discovered associated with the asthma disease in African-Americans and African-Caribbeans. The polymorphism, located in a gene called PYHIN1, was not present in European-Americans and may be the first asthma susceptibility gene variant specific to populations of African descent.

By pooling data from nine independent research groups looking for genes associated with asthma, the newly-created EVE Consortium identified a novel gene association specific to populations of African descent. In addition, the new study confirmed the significance of four gene associations recently reported by a European asthma genetics study.

The findings, published in Nature Genetics, are a promising first step for a new national scientific effort to hunt for the genetic roots of asthma.

Genome-wide association studies, or GWAS, are a popular method used by geneticists to find genetic variants associated with elevated risk for a particular disease. Genetic data from a group of patients with the target disease are compared to data from a control group without the disease, and researchers look for variants that appear significantly more often in the disease group.

In addition to increased power to find variants associated with asthma risk, the EVE dataset comprised a more ethnically diverse population than similar efforts in other countries by including European Americans, African Americans/African Caribbeans, and Latinos.

The diverse sample enabled the researchers to discover a novel genetic association with asthma observed exclusively in African-Americans and African-Caribbeans. The polymorphism, located in a gene called PYHIN1, was not present in European-Americans and may be the first asthma susceptibility gene variant specific to populations of African descent.

Four more gene variants were found significant for asthma risk by the meta-analysis: the 17q21 locus, and IL1RL1, TSLP, and IL33 genes.

The Nature Genetics study is only the first fruit of the EVE Consortium mission to understand the genetics of asthma.

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